The aims of this study were to evaluate the contribution of chromosomal microarray analysis (CMA) in the prenatal diagnosis of fetuses with central nervous system (CNS) anomalies but normal chromosomal karyotype. A total of 46 fetuses with CNS anomalies with or without other ultrasound anomalies but normal karyotypes were evaluated by array-based comparative genomic hybridisation (aCGH) or single-nucleotide polymorphism (SNP) array. The result showed that CNVs were detected in 17 (37.0%) fetuses. Of these, CNVs identified in 5 (5/46, 10.9%) fetuses were considered to be likely pathogenic, and CNVs detected in 3 (3/46, 6.5%) fetuses were defined as being of uncertain clinical significance. Fetuses with CNS malformations plus other ultrasound anomalies had a higher rate of pathogenic CNVs than those with isolated CNS anomalies (13.6% versus 8.3%), but there was no significant difference (Fisher's exact test, P > 0.05). Pathogenic CNVs were detected most frequently in fetuses with Dandy-Walker syndrome (2/6, 33.3%) when compared with other types of neural malformations, and holoprosencephaly (2/7, 28.6%) ranked the second. CMA is valuable in prenatal genetic diagnosis of fetuses with CNS anomalies. It should be considered as part of prenatal diagnosis in fetuses with CNS malformations and normal karyotypes.

Aim: To review our experience with the prenatal diagnosis of congenital portosystemic shunt (CPSS). Methods: This is a retrospective study of CPSS cases examined at an ultrasonographic tertiary referral center from 2013 to 2019. The anatomical origin and drainage of the shunt were assessed. Feto-maternal clinical characteristics and long-term outcomes were investigated via medical files and telephone interviews with the mothers. Results: Eleven cases were reviewed. Based on the anatomical origins, before or after portal vein division, cases were classified into extrahepatic portosystemic shunt (EHPSS, n = 3, 27.3%) and intrahepatic portosystemic shunt (IHPSS, n = 8, 72.7%). Additional abnormalities were also observed in the EHPSS (n = 2, 66.7%) and IHPSS (n = 3, 37.5%) groups. Intrauterine growth restriction was the most common abnormality (n = 4, 80%). The median age of the pregnant women was 31.9 years (range 26~43 years). Most cases (n = 8, 72.7%) were diagnosed in the third trimester, and the median gestational age was 31 +5 weeks (range 24~36 +6 weeks). Three cases underwent karyotype examinations, and one had trisomy 13. The median time after birth was 2 years (range 0.7~5.7 years). The overall postnatal live-birth rate was 60% (6/10), not including one case with no data on pregnancy outcome. The mothers of the six live births indicated that their children were in excellent health. Conclusion: This study indicates that prenatal CPSS diagnosis is feasible, especially in the third trimester. IHPSS is more common than EHPSS. Complicated cases most often occur with EHPSS. Intrauterine growth restriction is the most common concomitant abnormality. The prognosis of most cases is good.

No abstract

No abstract